Duran M, Bruinvis L, Ketting D, Wadman S K
J Inherit Metab Dis. 1978;1(3):105-7. doi: 10.1007/BF01805683.
Two patients with methylmalonic acidaemia due to methylmalonyl-CoA mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.
对两名因甲基丙二酰辅酶A变位酶缺乏导致甲基丙二酸血症的患者进行了数年研究。两人均至少出现过两次严重酮症酸中毒发作，在此期间，除甲基丙二酸外，他们还排泄出多种异常化合物：3-羟基丙酸、2-甲基-3-羟基丁酸、3-羟基正戊酸、3-氧代正戊酸、2-甲基-3-氧代丁酸、柠康酸和N-惕各酰甘氨酸。这些化合物部分代表异亮氨酸降解途径的中间代谢产物，部分代表丙酰辅酶A和惕各酰辅酶A的次级代谢产物。
